rs757917335, DYSF

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
0.800 GeneticVariation UNIPROT Symptomatic dysferlin gene mutation carriers: characterization of two cases. 17287450 2007
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
0.800 GeneticVariation CLINVAR Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II). 17331981 2007
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
0.800 GeneticVariation CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962 2015